rs149790377

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	3	cystic fibrosis carrier
(T;T)	0	common in clinvar

Make rs149790377(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117603613

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs149790377
dbSNP (classic)	rs149790377
ClinGen	rs149790377
ebi	rs149790377
HLI	rs149790377
Exac	rs149790377
Gnomad	rs149790377
Varsome	rs149790377
LitVar	rs149790377
Map	rs149790377
PheGenI	rs149790377
Biobank	rs149790377
1000 genomes	rs149790377
hgdp	rs149790377
ensembl	rs149790377
geneview	rs149790377
scholar	rs149790377
google	rs149790377
pharmgkb	rs149790377
gwascentral	rs149790377
openSNP	rs149790377
23andMe	rs149790377
SNPshot	rs149790377
SNPdbe	rs149790377
MSV3d	rs149790377
GWAS Ctlg	rs149790377

Max Magnitude

3

Cystic fibrosis; c.2739T>A, p.Tyr913Ter

named i5011647 by 23andMe

ClinVar
Risk	rs149790377(A;A)
Alt	rs149790377(A;A)
Reference	Rs149790377(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117243667T>A
CLNSRC	CFTR2
CLNACC	RCV000046670.3,